HGMD Professional Human Germline Mutation Rapid Assessment
Reduction of the burden of evaluating human germline mutations; comprehensive database of causative gene mutations for human hereditary diseases; adopted by renowned institutions such as NHS England.
The Human Gene Mutation Database (HGMD) Professional is a comprehensive database that catalogs gene mutations responsible for human hereditary diseases. Today, an average of over 110 new mutations are reported daily (from 2021 to 2023), and the high comprehensiveness of HGMD Professional makes this database a valuable and unique resource. Additionally, the information collected by genetics experts who read the actual papers is of high quality. **Features** - High comprehensiveness (comprehensively includes gene mutations responsible for hereditary diseases published in papers: approximately 510,000 mutations as of September 2024) - High quality (the information is collected by experts who read the papers, and the quality is such that they may correct authors' mistakes) - Timeliness (typically updated four times a year to maintain its currency)
- 企業：キアゲン
- 価格：Other
